Phenotypes associated with the disease glucocorticoid deficiency 5 (OMIM:617825):
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 7/7. (PMID:24601690)
- Abnormal response to ACTH stimulation test (HP:0031074): An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. Evidence: IEA. (PMID:24601690)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24601690)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: PCS. Frequency: 5/7. (PMID:24601690)